Literature DB >> 12819610

[Corneoscleral involvement in congenital erythropoietic porphyria. Günther disease].

J-L Arné1, C Depeyre, L Lesueur.   

Abstract

Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow. The present report describes a typical case of CEP with cornea involvement and scleromalacia in areas exposed to sunlight. The results obtained by conjunctival impression cytology are reported.

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Year:  2003        PMID: 12819610

Source DB:  PubMed          Journal:  J Fr Ophtalmol        ISSN: 0181-5512            Impact factor:   0.818


  2 in total

1.  Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature.

Authors:  Shweta Agarwal; Parthopratim Dutta Majumder; Bhaskar Srinivasan; Geetha Iyer
Journal:  Oman J Ophthalmol       Date:  2015 Sep-Dec

2.  A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.

Authors:  Mishra Debjani; Mukhopadhyay Somnath
Journal:  Middle East Afr J Ophthalmol       Date:  2016 Jan-Mar
  2 in total

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